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Standards Ontologies Notations
Wilson disease

Summary
Synonym
  • Cerebral pseudosclerosis
  • Westphal pseudosclerosis
  • Westphal-Strumpell syndrome
  • Wilson's disease
  • hepatolenticular degeneration
Definition
A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes.
Super Class
metal metabolism disorder
External Links
Disease Ontology
DOID:893
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
11747 Anxa5 annexin A5
11977 Atp7a ATPase, copper transporting, alpha polypeptide
12870 Cp ceruloplasmin
15357 Hmgcr 3-hydroxy-3-methylglutaryl-Coenzyme A reductase
20597 Smpd1 sphingomyelin phosphodiesterase 1, acid lysosomal
Displaying all 2 entries
Gene ID Gene Symbol Description Source
24941 Atp7a ATPase copper transporting alpha
25675 Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42803 Hmgcr HMG Coenzyme A reductase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
174131 asm-1 Sphingomyelin phosphodiesterase 1
176879 asm-3 Putative sphingomyelin phosphodiesterase asm-3;Sphingomyelin phosphodiesterase
181323 asm-2 Sphingomyelin phosphodiesterase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851171 HMG2 hydroxymethylglutaryl-CoA reductase (NADPH) HMG2
852063 PPN1 endopolyphosphatase
854900 HMG1 hydroxymethylglutaryl-CoA reductase (NADPH) HMG1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024